نتایج جستجو برای: genotype frequencies

تعداد نتایج: 180285  

Journal: :Journal of the American Society of Nephrology : JASN 2015
Katharina Hopp Andrea G Cogal Eric J Bergstralh Barbara M Seide Julie B Olson Alicia M Meek John C Lieske Dawn S Milliner Peter C Harris

Primary hyperoxaluria (PH) is a rare autosomal recessive disease characterized by oxalate accumulation in the kidneys and other organs. Three loci have been identified: AGXT (PH1), GRHPR (PH2), and HOGA1 (PH3). Here, we compared genotype to phenotype in 355 patients in the Rare Kidney Stone Consortium PH registry and calculated prevalence using publicly available whole-exome data. PH1 (68.4% of...

Journal: :The journals of gerontology. Series A, Biological sciences and medical sciences 2005
Cristiano Capurso Vincenzo Solfrizzi Alessia D'Introno Anna M Colacicco Sabrina A Capurso Franco Mastroianni Maria Liaci Gianluigi Vendemiale Antonio Capurso Francesco Panza

The cathepsin D gene (CTSD) exon 2 (C224T) polymorphism has been associated with an increased risk for sporadic Alzheimer's disease (AD), but with controversial findings. We studied CTSD exon 2 (C224T) and apolipoprotein E (APOE) genotype frequencies in 168 AD patients and 218 age-matched healthy controls from Southern Italy. No statistically significant differences were found in CTSD allele or...

امیری, پروین, اکرمی, سید محمد , حشمت, رامین , حیدری, جواد , فخرزاده, حسین , پژوهی, محمد,

Background: Uncoupling protein-2 (UCP2), one of the mitochondrial transporter memborane protiens, is suggested as a contributor gene for obesity. A common G/A polymorphism in the UCP2 promoter region is associated with obesity and diabetes.Methods: As a cross-sectional study, 75 healthy 25-64 years volunteers were randomly selected from Tehran University of Medical Sciences population Lab. DNA ...

2016
Hannan Al-Rayes Ghaleb Huraib Saeed Julkhuf Misbahul Arfin Mohammad Tariq Abdulrahman Al-Asmari

Apolipoprotein E (APOE) is a glycosylated protein with multiple biological properties. APOE gene polymorphism plays a central role in lipid metabolism and has recently been suggested to regulate inflammation. Our objective is to evaluate whether APOE polymorphism affects susceptibility to SLE. APOE genotyping was performed using ApoE StripAssay™ kit. Results indicated significantly higher frequ...

Ali Akbar Amirzargar, Ardeshir Ghavamzadeh Batul Moradi Behrouz Nikbin, Bita Ansaripour Farideh Khosravi Kamran Alimoghadam Mandana Moheydin Mohammad Hossein Nicknam Morteza Bagheri

Background:It has been hypothesized that genetic factors other than histocompatibility disparity may play a role in predisposition to developing Chronic Myelogenous Leukemia (CML). In this regard, Th1 and Th2 cytokines and their gene polymorphism seems to be important. Overall expression and secretion of cytokines is dependent, at least in part, on genetic polymorphism (nucleotide variations) w...

Journal: :iranian journal of public health 0
hamid reza khorram khorshid 1. genetic research centre, university of social welfare and rehabilitation sciences , tehran, iran. elnaz gozalpour 1. genetic research centre, university of social welfare and rehabilitation sciences , tehran, iran. kioomars saliminejad 3. reproductive biotechnology research center, avicenna research institute, acecr , tehran, iran. masood karimloo 2. dept. of epidemiology and biostatistics, university of social welfare and rehabilitation sciences , tehran, iran. mina ohadi 1. genetic research centre, university of social welfare and rehabilitation sciences , tehran, iran. koorosh kamali 3. reproductive biotechnology research center, avicenna research institute, acecr , tehran, iran.

late-onset alzheimer's disease (ad), a genetically heterogeneous neurodegenerative disorder, is the most common form of dementia in people over 65 years old. the role of vitamin d in neuropsychiatric and neurodegenerative disorders such as ad has been supported by epidemiologic investigations and animal models, as well. we examined the association of the vitamin d receptor (vdr) gene polymorphi...

Journal: :Asian Pacific journal of cancer prevention : APJCP 2013
Li Su Yuan Zhang Chun-Yang Zhang An-Long Zhang Xiao-Long Mei Zhi-Jun Zhao Jian-Guo Han Li-Jun Zhao

We performed a case-control study to investigate whether SNPs of CHIP might affect the development of IA in Chinese Han nationality. We believe we are the first to have screened IA patients for mutations in the CHIP gene to determine the association with these variants. The study group comprised 224 Chinese Han nationality patients with at least one intracranial aneurysm and 238 unrelated healt...

امین افشار, مهدی, صاحی, عبدالرضا, نصیری, خدیجه, یوسفی, احد,

  OPN gene is located in the middle of chromosome 6 and it is reported that this gene is essential for the growth of mammary glands and lactation . UTMP gene is located on chromosome 21 and it plays a role in embryo survival rates and fertility rates . Studies have also shown that these two genes have a significant association with milk production traits and health traits. The aim of this study...

Afshin Samiei, Behnaz Valibeigi Mohammadrasul Zareinejad Soheila Zareifar Tahereh Gholami Zahra Amirghofran

Background: Interleukin (IL)-23 has an important role in tumor immune regulation. Objective: To investigate the possible association of interleukin-23 receptor (IL23R) gene variants rs1884444, rs10889677 and rs11209026 with development of acute lymphoblastic leukemia (ALL). Methods: The IL23R variants were studied in 164 ALL patients and compared to 175 healthy controls by polymerase chain reac...

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